Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000559471 | SCV000624571 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2017-12-01 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 7-8 of the MSH2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic. Deletion of exons 7-8 has been reported in the literature in families affected with Lynch syndrome (PMID: 15942939, 16736289). For these reasons, this variant has been classified as Pathogenic. |